Canonical Allele Identifier: CA2689982937
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37432295-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432295G>T , CM000671.2:g.37432295G>T GRCh38
NC_000009.11:g.37432292G>T , CM000671.1:g.37432292G>T GRCh37
NC_000009.10:g.37422292G>T NCBI36
NG_008135.1:g.14586G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.865+157G>T MANE Select ENSP00000313432.6:n.865+157G>T
ENST00000318158.10:c.865+157G>T ENSP00000313432.6:n.865+157G>T
ENST00000460882.5:n.892+157G>T
ENST00000480596.5:n.1566+157G>T
ENST00000482603.1:n.318+157G>T
ENST00000491488.5:n.570+157G>T
ENST00000494290.1:c.*51+1144G>T ENSP00000432021.1:n.*51+1144G>T
ENST00000497693.1:n.4433+157G>T
ENST00000512404.2:n.209G>T
ENST00000607784.1:c.865+157G>T ENSP00000475569.1:n.865+157G>T
NM_012203.1:c.865+157G>T NP_036335.1:n.865+157G>T
XM_005251631.1:c.544+157G>T XP_005251688.1:n.544+157G>T
XM_011518073.1:c.463+157G>T XP_011516375.1:n.463+157G>T
XM_017015320.2:c.865+157G>T XP_016870809.1:n.865+157G>T
XM_017015321.2:c.865+157G>T XP_016870810.1:n.865+157G>T
XM_017015323.2:c.463+157G>T XP_016870812.1:n.463+157G>T
XM_024447716.1:c.1138+157G>T XP_024303484.1:n.1138+157G>T
XM_024447717.1:c.1138+157G>T XP_024303485.1:n.1138+157G>T
XR_002956828.1:n.1153+157G>T
XR_002956829.1:n.1153+157G>T
XR_002956830.1:n.2285+157G>T
XR_002956831.1:n.1960+157G>T
XR_002956832.1:n.1284+157G>T
NM_012203.2:c.865+157G>T MANE Select NP_036335.1:n.865+157G>T